MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Macular Dystrophy, Retinal, 2 (C562746)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson Chorioretinal Atrophy (C566236)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7335
Name:Macular Dystrophy, Retinal, 2
Definition:
Alternative IDs:OMIM:608051
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C562746 |C11.270.162/C562746 |C16.320.290.162/C562746
Synonyms:MCDR2
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C562746
MeSH: C562746
OMIM: 608051;
MSeqDR LSDB:  
Genes: PROM1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0030629Perifoveal ring of hyperautofluorescence
3 HP:0000603Central scotoma
4 HP:0007641Dyschromatopsia
5 HP:0007793Granular macular appearance
6 HP:0007754Macular dystrophy
7 HP:0007663Reduced visual acuity
8 HP:0007722Retinal pigment epithelial atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006017.3(PROM1):c.*1143A>C8842PROM1Uncertain significance544424652RCV001149731|RCV001149732|RCV001149733|RCV001149734; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON415969873159698734:g.15969873T>G-
NM_006017.3(PROM1):c.*1052G>A8842PROM1Conflicting interpretations of pathogenicity577484119RCV000271338|RCV000306689|RCV000328709|RCV000363732; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415969964159699644:g.15969964C>TClinGen:CA10618184CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*963A>G8842PROM1Uncertain significance886059196RCV000265688|RCV000323028|RCV000358063|RCV000380018; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON415970053159700534:g.15970053T>CClinGen:CA10620363CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*781G>A8842PROM1Uncertain significance1713636052RCV001145504|RCV001149842|RCV001149843|RCV001149844; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415970235159702354:g.15970235C>T-
NM_006017.3(PROM1):c.*684C>T8842PROM1Conflicting interpretations of pathogenicity140362696RCV000278098|RCV000281713|RCV000316805|RCV000373870; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415970332159703324:g.15970332G>AClinGen:CA10618194CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*681C>G8842PROM1Uncertain significance947805890RCV001145505|RCV001145506|RCV001145507|RCV001147454; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415970335159703354:g.15970335G>C-
NM_006017.3(PROM1):c.*667A>C8842PROM1Benign2240688RCV000294834|RCV000348387|RCV000352014|RCV000386635|RCV001660729; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415970349159703494:g.15970349T>GClinGen:CA10617331CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*640T>A8842PROM1Uncertain significance1713667197RCV001147455|RCV001147457|RCV001147456|RCV001148385; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND415970376159703764:g.15970376A>T-
NM_006017.3(PROM1):c.*198T>C8842PROM1Uncertain significance1713762475RCV001149945|RCV001149947|RCV001149946|RCV001149948; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND415970818159708184:g.15970818A>G-
NM_006017.3(PROM1):c.*189A>G8842PROM1Uncertain significance537324748RCV001145609|RCV001149949|RCV001149950|RCV001149951; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415970827159708274:g.15970827T>C-
NM_006017.3(PROM1):c.*107G>T8842PROM1Uncertain significance1024479425RCV001145612|RCV001145613|RCV001145610|RCV001145611; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON415970909159709094:g.15970909C>A-
NM_006017.3(PROM1):c.2582+43C>T8842PROM1Benign11725522RCV001709322|RCV001789544|RCV001789546|RCV001789545|RCV001789547; NMedGen:C3661900|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp4159809751598097515980975-
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)8842PROM1Conflicting interpretations of pathogenicity747844753RCV000261335|RCV000318837|RCV000353914|RCV000375741|RCV001861228; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415981022159810224:g.15981022T>CClinGen:CA2866319CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)8842PROM1Uncertain significance201910962RCV000274437|RCV000296764|RCV000331908|RCV000388672|RCV001301011; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND415981049159810494:g.15981049C>TClinGen:CA2866323CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)8842PROM1Uncertain significance534529507RCV000291042|RCV000339072|RCV000344815|RCV000383008; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON415981509159815094:g.15981509C>TClinGen:CA10620364CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2489+8T>C8842PROM1Uncertain significance1433533825RCV001148499|RCV001148497|RCV001148498|RCV001150065; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND415982037159820374:g.15982037A>G-
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)8842PROM1Conflicting interpretations of pathogenicity146434364RCV001150066|RCV001150067|RCV001150068|RCV001150069|RCV001326315; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415982049159820494:g.15982049C>T-
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)8842PROM1Uncertain significance886059198RCV000298975|RCV000335189|RCV000392496|RCV000401717; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON415982054159820544:g.15982054A>GClinGen:CA10620367CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2373+13C>G8842PROM1Uncertain significance886059199RCV000278589|RCV000318449|RCV000342928|RCV000373139; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND415985873159858734:g.15985873G>CClinGen:CA10618195CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)8842PROM1Conflicting interpretations of pathogenicity551849678RCV000283949|RCV000339031|RCV000399730|RCV000399383|RCV001442000; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121415985895159858954:g.15985895G>AClinGen:CA2866416CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)8842PROM1Conflicting interpretations of pathogenicity202029748RCV000274073|RCV000319916|RCV000355970|RCV000368747|RCV000839749; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41598597515985975NC_000004.11:g.15985975T>CClinGen:CA2866434CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2281-5C>G8842PROM1Uncertain significance777654968RCV000260970|RCV000285875|RCV000316222|RCV000380196|RCV001247620; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON41598598315985983NC_000004.11:g.15985983G>CClinGen:CA2866438CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2281-6C>G8842PROM1Benign3815344RCV000081347|RCV000291850|RCV000322412|RCV000346832|RCV000377008|RCV000826342|RCV001789128; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0041598598415985984NC_000004.11:g.15985984G>CClinGen:CA148436CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2211+7C>T8842PROM1Conflicting interpretations of pathogenicity372262346RCV000300221|RCV000312096|RCV000366791|RCV000391793|RCV001455863; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND41598757315987573NC_000004.11:g.15987573G>AClinGen:CA2866473CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)8842PROM1Conflicting interpretations of pathogenicity199727800RCV001146428|RCV001146430|RCV001146429|RCV001229010|RCV001149203; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MedG415989322159893224:g.15989322G>T-
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)8842PROM1Uncertain significance530749007RCV001149204|RCV001149205|RCV001149206|RCV001149207|RCV002557210; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND415991381159913814:g.15991381G>C-
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)8842PROM1Conflicting interpretations of pathogenicity149028760RCV000081346|RCV000296436|RCV000351307|RCV000326660|RCV000381327|RCV000892544; NMedGen:CN169374|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00415992851159928514:g.15992851G>AClinGen:CA148434CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)8842PROM1Conflicting interpretations of pathogenicity761911901RCV000487979|RCV000765764|RCV001199723|RCV003236583|RCV003338612; NMedGen:C3661900|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640; MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp415992882159928824:g.15992882G>AClinGen:CA2866577CN517202 not provided;
NM_006017.3(PROM1):c.1911+14G>A8842PROM1Conflicting interpretations of pathogenicity79077926RCV000272696|RCV000309053|RCV000357535|RCV000363702|RCV001513432; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141599385715993857NC_000004.11:g.15993857C>TClinGen:CA2866604CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)8842PROM1Uncertain significance886059200RCV000269012|RCV000274850|RCV000333496|RCV000387939; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON41599391115993911NC_000004.11:g.15993911C>TClinGen:CA10618197CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)8842PROM1Conflicting interpretations of pathogenicity140027620RCV000969187|RCV001150810|RCV001150811|RCV001150812|RCV001150809; NMedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00415995626159956264:g.15995626T>C-
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)8842PROM1Conflicting interpretations of pathogenicity199674847RCV001144700|RCV001150813|RCV001150814|RCV001300999|RCV001150815; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00415995639159956394:g.15995639T>G-
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)8842PROM1Conflicting interpretations of pathogenicity201644238RCV001144701|RCV001144702|RCV001144703|RCV001146664|RCV002557089; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND415995667159956674:g.15995667G>A-
NM_006017.3(PROM1):c.1579-6T>C8842PROM1Conflicting interpretations of pathogenicity181261277RCV000277946|RCV000314370|RCV000363164|RCV000369060|RCV000956181; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600011716000117NC_000004.11:g.16000117A>GClinGen:CA2866715CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1579-12A>C8842PROM1Conflicting interpretations of pathogenicity370183490RCV001147571|RCV001147573|RCV001147572|RCV001147574|RCV002070791; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON416000123160001234:g.16000123T>G-
NM_006017.3(PROM1):c.1578+9G>C8842PROM1Conflicting interpretations of pathogenicity747638667RCV000261455|RCV000262727|RCV000320164|RCV000353950|RCV002057918; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600211016002110NC_000004.11:g.16002110C>GClinGen:CA2866728CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)8842PROM1Conflicting interpretations of pathogenicity201870277RCV000283728|RCV000322364|RCV000323535|RCV000380476|RCV000594499; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND41600212116002121NC_000004.11:g.16002121G>AClinGen:CA2866732CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)8842PROM1Conflicting interpretations of pathogenicity113895168RCV000153771|RCV000757689|RCV001144801|RCV001150902|RCV001150903|RCV001150904; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C18635416002200160022004:g.16002200G>AClinGen:CA180342CN169374 not specified;
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)8842PROM1Conflicting interpretations of pathogenicity200520976RCV000291776|RCV000344405|RCV000383774|RCV000400713|RCV001510571; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141600220616002206NC_000004.11:g.16002206C>AClinGen:CA2866747CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)8842PROM1Conflicting interpretations of pathogenicity536622788RCV001144802|RCV001144803|RCV001144804|RCV001146761|RCV001326038; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416002229160022294:g.16002229T>A-
NM_006017.3(PROM1):c.1450A>G (p.Met484Val)8842PROM1Uncertain significance574974703RCV002028275|RCV002486592; NMedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640; MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Or4160081651600816516008165-
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)8842PROM1Conflicting interpretations of pathogenicity763710252RCV001146765|RCV001146763|RCV001146762|RCV001146764|RCV001442163; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND416008208160082084:g.16008208C>T-
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)8842PROM1Uncertain significance1297490531RCV001146766|RCV001146767|RCV001146768|RCV001147665; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON416008228160082284:g.16008228A>G-
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)8842PROM1Conflicting interpretations of pathogenicity779072238RCV000295344|RCV000312842|RCV000352517|RCV000401437|RCV001861230; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141600823816008238NC_000004.11:g.16008238G>AClinGen:CA2866789CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1301+11C>A8842PROM1Conflicting interpretations of pathogenicity189953160RCV001144910|RCV001151004|RCV001151005|RCV001151006; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND416010561160105614:g.16010561G>T-
NM_006017.3(PROM1):c.1301+10T>A8842PROM1Conflicting interpretations of pathogenicity192338518RCV001144911|RCV001144912|RCV001144913|RCV001144914; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND416010562160105624:g.16010562A>T-
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)8842PROM1Uncertain significance200710798RCV000265119|RCV000266734|RCV000324262|RCV000358025|RCV001241226; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601059416010594NC_000004.11:g.16010594A>TClinGen:CA10620411CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)8842PROM1Conflicting interpretations of pathogenicity200710798RCV000935482|RCV001144916|RCV001146867|RCV001144915|RCV001144917; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp416010594160105944:g.16010594A>G-
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)8842PROM1Uncertain significance886059202RCV000287882|RCV000326558|RCV000327805|RCV000384644; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601060216010602NC_000004.11:g.16010602A>GClinGen:CA10618199CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)8842PROM1Conflicting interpretations of pathogenicity886059203RCV000295982|RCV000348661|RCV000388013|RCV000394593|RCV001504867; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141601065516010655NC_000004.11:g.16010655G>CClinGen:CA10617341CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)8842PROM1Conflicting interpretations of pathogenicity140682455RCV000431346|RCV001147772|RCV001147774|RCV001147773|RCV001151114; NMedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp416010674160106744:g.16010674A>GClinGen:CA2866836CN169374 not specified;
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)8842PROM1Conflicting interpretations of pathogenicity770268627RCV001151116|RCV001151118|RCV001151115|RCV001151117|RCV001858986; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON416010678160106784:g.16010678G>A-
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)8842PROM1Conflicting interpretations of pathogenicity201748228RCV001044541|RCV001151119|RCV001151120|RCV001151121|RCV001145008; NMedGen:C3661900|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,O416010721160107214:g.16010721C>G-
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)8842PROM1Pathogenic137853006RCV000005960|RCV000005961|RCV000005962|RCV000479499|RCV000504765|RCV000787649|RCV000787648|RCV001723543|RCV002496275; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MedGen:C3661900|Human Phenotype Ontology:HP:0000556,Human Phenotyp41601492216014922NC_000004.11:g.16014922G>AClinGen:CA117645,UniProtKB:O43490#VAR_057961,OMIM:604365.0003C0339512 608051 Bull's eye macular dystrophy;
NM_006017.3(PROM1):c.1003-35A>C8842PROM1Benign2286458RCV001674013|RCV001789502|RCV001789499|RCV001789500|RCV001789501; NMedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orpha4160178981601789816017898-
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)8842PROM1Conflicting interpretations of pathogenicity202041422RCV000282344|RCV000304480|RCV000335053|RCV000399717|RCV002057919; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND41601998516019985NC_000004.11:g.16019985C>AClinGen:CA2866910CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)8842PROM1Conflicting interpretations of pathogenicity182096110RCV000303463|RCV000313919|RCV000361771|RCV000365161|RCV000400435|RCV000950665; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN169374|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp416020080160200804:g.16020080T>GClinGen:CA2866931CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.843C>T (p.His281=)8842PROM1Conflicting interpretations of pathogenicity374394451RCV000273099|RCV000276686|RCV000307126|RCV000364245|RCV002057920; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON41602010516020105NC_000004.11:g.16020105G>AClinGen:CA2866936CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)8842PROM1Conflicting interpretations of pathogenicity369815021RCV000308028|RCV000347822|RCV000369682|RCV000398824|RCV001300200; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND41602500216025002NC_000004.11:g.16025002C>TClinGen:CA2866970CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)8842PROM1Uncertain significance752543587RCV000262406|RCV000277700|RCV000311752|RCV000368672|RCV001350400; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41602501516025015NC_000004.11:g.16025015C>TClinGen:CA10620390CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.717C>T (p.Gly239=)8842PROM1Conflicting interpretations of pathogenicity763697898RCV000266664|RCV000315947|RCV000324190|RCV000372846|RCV001454692; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON41602501616025016NC_000004.11:g.16025016G>AClinGen:CA2866976CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)8842PROM1Conflicting interpretations of pathogenicity376198840RCV000998230|RCV001149511|RCV001147961|RCV001147962|RCV001147963; NMedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00416025935160259354:g.16025935G>A-
NM_006017.3(PROM1):c.631-14T>C8842PROM1Benign/Likely benign16892824RCV000287975|RCV000314928|RCV000345306|RCV000396849|RCV001518834|RCV002502339; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141602599516025995NC_000004.11:g.16025995A>GClinGen:CA2867015CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)8842PROM1Conflicting interpretations of pathogenicity140872693RCV000171375|RCV000299552|RCV000348573|RCV000356757|RCV000390528|RCV000765766|RCV000987426|RCV001257791; NMedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00416026841160268414:g.16026841G>CClinGen:CA236211CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)8842PROM1Uncertain significance369512467RCV000268102|RCV000298692|RCV000360430|RCV000390262|RCV001861231; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON41602688916026889NC_000004.11:g.16026889G>AClinGen:CA2867045CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)8842PROM1Uncertain significance1733212554RCV001145211|RCV001145212|RCV001145210|RCV001147172; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON416035056160350564:g.16035056C>A-
NM_006017.3(PROM1):c.376G>A (p.Val126Met)8842PROM1Conflicting interpretations of pathogenicity199556426RCV001147175|RCV001147176|RCV001147173|RCV001147174|RCV001241210; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416035060160350604:g.16035060C>T-
NM_006017.3(PROM1):c.303+6G>A8842PROM1Benign2078622RCV000253413|RCV000271856|RCV000321055|RCV000329200|RCV000359497|RCV000836050|RCV001789282; NMedGen:CN169374|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,O41603735216037352NC_000004.11:g.16037352C>TClinGen:CA2867118CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.277-15C>T8842PROM1Conflicting interpretations of pathogenicity372599685RCV000289511|RCV000332880|RCV000381583|RCV000389815|RCV002057921; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012141603739916037399NC_000004.11:g.16037399G>AClinGen:CA2867123CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.276+15G>T8842PROM1Conflicting interpretations of pathogenicity766012920RCV000278099|RCV000295776|RCV000350668|RCV000394477; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416040554160405544:g.16040554C>AClinGen:CA2867130CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.228G>A (p.Leu76=)8842PROM1Benign76963591RCV000081348|RCV000302705|RCV000337715|RCV000362013|RCV000399220|RCV001518003; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00416040617160406174:g.16040617C>TClinGen:CA148437CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)8842PROM1Conflicting interpretations of pathogenicity201701647RCV000273204|RCV000308324|RCV000363045|RCV000400360|RCV001439949; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416077349160773494:g.16077349T>CClinGen:CA2867174CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)8842PROM1Conflicting interpretations of pathogenicity755064227RCV001145316|RCV001145315|RCV001145317|RCV001147260|RCV001366102; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON416077372160773724:g.16077372C>T-
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)8842PROM1Uncertain significance778896066RCV000273932|RCV000327985|RCV000333734|RCV000368597|RCV001850847; NMONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON416077375160773754:g.16077375A>GClinGen:CA2867181CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.129C>T (p.Thr43=)8842PROM1Benign10033086RCV000252686|RCV000279950|RCV000316444|RCV000375651|RCV000388410|RCV001509696; NMedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orph416077401160774014:g.16077401G>AClinGen:CA2867187CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.105A>G (p.Glu35=)8842PROM1Uncertain significance886059205RCV000280677|RCV000286424|RCV000340399|RCV000398030; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416077425160774254:g.16077425T>CClinGen:CA10618201CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.15C>T (p.Leu5=)8842PROM1Benign10033189RCV000249658|RCV000277416|RCV000312520|RCV000367292|RCV000398887|RCV001512766; NMedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00416077515160775154:g.16077515G>AClinGen:CA2867201CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-25T>A8842PROM1Conflicting interpretations of pathogenicity149845694RCV000259686|RCV000313534|RCV000319521|RCV000354399; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND416077554160775544:g.16077554A>TClinGen:CA2867210CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-127A>G8842PROM1Uncertain significance886059206RCV000289358|RCV000290663|RCV000344310|RCV000384989|RCV002480212; NMONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416077656160776564:g.16077656T>CClinGen:CA10620456CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-168G>A8842PROM1Uncertain significance180926533RCV000261622|RCV000296943|RCV000356355|RCV000401292; NMONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121416077697160776974:g.16077697C>TClinGen:CA10618203CN239348 Cone-Rod Dystrophy, Dominant;
MSeqDR Portal